Identifying variants of interest by imputation

Abstract

Processing genetic information comprises: receiving an input that includes information pertaining to a specific genetic variant; and identifying, in a database comprising genotype information of a plurality of candidate individuals, a matching individual imputed to have the specific genetic variant. The genotype information of the matching individual corresponding to the specific genetic variant is not directly assayed.

Description

INCORPORATION BY REFERENCE[0001]An Application Data Sheet is filed concurrently with this specification as part of the present application. Each application that the present application claims benefit of or priority to as identified in the concurrently filed Application Data Sheet is incorporated by reference herein in its entirety and for all purposes.BACKGROUND OF THE INVENTION[0002]Genetic researchers often need to study specific genetic variants to understand their significance. For example, researchers may be interested in knowing whether a certain genetic variant of interest (VOI) (e.g., having G / C allele at location 150 on Chromosome 3) is correlated with a particular phenotype expression (e.g., having a particular disease). Currently, the interpretation of specific genetic variants and identification of cohorts with such variants, particularly variants of unknown significance (VUS) from whole-genome sequence data, pose substantial challenges in genetics studies. VUS are so n...

AI Technical Summary

Benefits of technology

The patent text describes a method for interpreting specific genetic variants and identifying cohorts with such variants from whole-genome sequence data. The method involves using a database to store genotype information of a plurality of individuals. The technical effect of this invention is to provide a more efficient and accurate way to study genetic variants and their correlations with specific phenotypes.

Problems solved by technology

Currently, the interpretation of specific genetic variants and identification of cohorts with such variants, particularly variants of unknown significance (VUS) from whole-genome sequence data, pose substantial challenges in genetics studies.

Because the genotype data is usually obtained using chips that have specific probes assaying selective locations on the genome, the data is typically not a full sequence and the VOI is not necessarily directly assayed (for example, an individual's assayed genotype data may not include specific information about the person's allele at location 150 on Chromosome 3 because the chip used for assaying does not have a probe at that location), making it difficult to study the VOI by directly using information stored in the large databases.

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